Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: CASK (calcium/calmodulin dependent serine protein kinase) Homo sapiens
Symbol: CASK
Name: calcium/calmodulin dependent serine protein kinase
Description: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAGH39; calcium/calmodulin-dependent serin protein kinase; calcium/calmodulin-dependent serine protein kinase; calcium/calmodulin-dependent serine protein kinase (MAGUK family); calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; CAMGUK; CMG; FGS4; FLJ22219; FLJ31914; hCASK; LIN2; MICPCH; MRXSNA; peripheral plasma membrane protein CASK; protein lin-2 homolog; TNRC8; trinucleotide repeat containing 8
Related Pseudogenes: CASKP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X41,514,934 - 41,923,525 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on CASK
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733678
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.